Canonical Allele Identifier: CA128991

Gene: FOXE3 LINC01389

Linked Data

• ClinVar Variation Id: 30157
• ClinVar RCV Id: RCV000023071
• dbSNP Id: rs387906793
• gnomAD v4: 1-47417274-G-T
• MyVariant Identifiers: chr1:g.47882946G>T (hg19) ; chr1:g.47417274G>T (hg38)
• PubMed: PMID:3550563 ; PMID:21150893

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47417274G>T , CM000663.2:g.47417274G>T	GRCh38
NC_000001.10:g.47882946G>T , CM000663.1:g.47882946G>T	GRCh37
NC_000001.9:g.47655533G>T	NCBI36
NG_016192.1:g.6203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335071.4:c.959G>T (FOXE3) MANE Select	ENSP00000334472.2:p.Ter320Leu
ENST00000335071.3:c.959G>T (FOXE3)	ENSP00000334472.2:p.Ter320Leu
NM_012186.2:c.959G>T (FOXE3)	NP_036318.1:p.Ter320Leu
NR_126355.1:n.29-7373C>A (LINC01389)
NM_012186.3:c.959G>T (FOXE3) MANE Select	NP_036318.1:p.Ter320Leu